Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
D000328:Adult; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D007150:Immunohistochemistry; D007527:Isoenzymes / Q000235:genetics; D017241:MELAS Syndrome / Q000235:genetics* / Q000473:pathology; D017243:MERRF Syndrome / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D010375:Pedigree; D010554:Personality Disorders / Q000209:etiology / Q000523:psychology; D010641:Phenotype; D011451:Prostaglandin-Endoperoxide Synthases / Q000235:genetics; D012354:RNA, Transfer, His / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000378:metabolism
D004272:DNA, Mitochondrial; D007527:Isoenzymes; D008565:Membrane Proteins; D012354:RNA, Transfer, His; D011451:Prostaglandin-Endoperoxide Synthases; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV